Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.600 GeneticVariation disease UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.600 Biomarker disease GENOMICS_ENGLAND Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.600 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.600 GeneticVariation disease UNIPROT De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.600 CausalMutation disease CLINVAR
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.600 GeneticVariation disease CLINVAR
CUI: C4748872
Disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT 		0.400 GeneticVariation disease UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
CUI: C4748872
Disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT 		0.400 CausalMutation disease CLINVAR
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 AlteredExpression disease BEFREE CONCLUSIONS In prostate cancer, miR-99a-3p expression was associated with the Wnt and VEGF signaling pathways, which might inhibit the expression of PPP3CA or HYOU1. 29997385 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 Biomarker disease CTD_human Global analysis of differentially expressed genes in androgen-independent prostate cancer. 17199135 2007
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.300 Biomarker disease CTD_human Downregulation of miR-145-5p in cancer cells and their derived exosomes may contribute to the development of ovarian cancer by targeting CT. 30365097 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.300 Biomarker disease CTD_human New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types. 27158780 2016
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.300 Biomarker disease CTD_human The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease. 23519153 2013
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease. 23519153 2013
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.300 Biomarker disease CTD_human Exocrine pancreatic carcinogenesis and autotaxin expression. 22952646 2012
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Global analysis of differentially expressed genes in androgen-independent prostate cancer. 17199135 2007
CUI: C0039584
Disease: Testicular Diseases
Testicular Diseases 		0.300 Biomarker group CTD_human FK506, a calcineurin inhibitor, prevents cadmium-induced testicular toxicity in mice. 17785681 2007
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.300 Biomarker disease CTD_human Angiotensin-converting enzyme inhibitor suppresses activation of calcineurin in renovascular hypertensive rats. 18344631 2007
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.200 Biomarker group RGD Role of calcineurin (CN) in kidney glomerular podocyte: CN inhibitor ameliorated proteinuria by inhibiting the redistribution of CN at the slit diaphragm. 27009276 2016
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		0.200 Biomarker disease RGD Cyclosporin A inhibits hypoxia-induced pulmonary hypertension and right ventricle hypertrophy. 16799071 2006
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		0.200 Biomarker disease RGD Endotracheal calcineurin inhibition ameliorates injury in an experimental model of lung ischemia-reperfusion. 14762344 2004
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.200 Biomarker group MGD
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease BEFREE The expression level of three candidate genes, <i>ADAMTS like 1</i>, <i>Larp7</i> and <i>PPP3CA,</i> were significantly different between the dwarf and normal sailfin mollies in the hepatopancreas, with <i>PPP3CA</i> also showing significant differences in the vertebrae and <i>Larp7</i> showing significant differences in the muscle. 31151300 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 GeneticVariation disease BEFREE We describe a boy with similar phenotype and severe early onset epileptic encephalopathy in whom a novel de novo c.1324C>T (p.(Gln442Ter)) PPP3CA variant was found by whole exome sequencing. 30254215 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype BEFREE De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017